EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012). ... EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques (summary by Liu et al., 2012).
Groves et al. (2010) reported a 38-year-old Kuwaiti man, born of consanguineous parents, with epidermolysis bullosa simplex. He had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, ... Groves et al. (2010) reported a 38-year-old Kuwaiti man, born of consanguineous parents, with epidermolysis bullosa simplex. He had a lifelong history of trauma-induced spontaneous blisters and erosions particularly affecting his ankles and feet, although the face, trunk, and more proximal limbs were also affected. Blisters and erosions healed without delay, scarring, or milia formation. He also had nail dystrophy and moderate dental caries, but hair was normal and there was no history of mucosal blistering. Electron microscopic analysis of a skin biopsy showed discrete abnormalities of hemidesmosomes, with poorly formed inner plaques leading to a lucent zone between keratin filaments and outer hemidesmosomal plaques, which showed no gross abnormalities. Immunofluorescence staining showed absence of BPAG1-e at the dermal-epidermal junction and in keratinocytes. There was also decreased immunoreactivity for beta-4-integrin (ITGB4; 147557), PLEC1 (601282), and COL17A1 (113811). The patient's 4 sibs, parents, and 2 children had no skin abnormalities. In addition to skin blistering, the patient had CADASIL (125310) resulting from a heterozygous mutation in the NOTCH3 gene (600276). Liu et al. (2012) reported a 34-year-old Iranian woman with a lifelong skin blistering disorder that was worse during the summer and after trauma, such as at sites of friction from clothing. Blistering occurred mainly on the ankles, feet, dorsal aspects of the hands, and elbows. She had no hair, nail, mucosal, or genital involvement. Electron microscopy of skin biopsy showed abnormal hemidesmosomes with poorly formed inner plaques and a lucent zone between keratin filament sand outer hemidesmosomal plaques. The keratin filaments extended to where the inner plaques should be, but did not associate with any attachment structures. Immunostaining for BPAG1-e showed complete absence of the protein in the patient's skin sample. Her father and 2 of her 3 children also had mild blistering, but skin biopsies and DNA were not available from those individuals. None of the individuals had neurologic abnormalities.
In a Kuwaiti man with epidermolysis bullosa simplex, Groves et al. (2010) identified a homozygous truncating mutation in the DST gene (Q1124X; 113810.0002).
In a 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, ... In a Kuwaiti man with epidermolysis bullosa simplex, Groves et al. (2010) identified a homozygous truncating mutation in the DST gene (Q1124X; 113810.0002). In a 34-year-old Iranian woman from a consanguineous family with epidermolysis bullosa simplex, Liu et al. (2012) identified a homozygous truncating mutation in the DST gene (R1249X; 113810.0003).